S51R (p.Ser51Arg) variant of SCN9A (Q15858)
S51R (p.Ser51Arg) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; Neuropathy, hereditary sensory and auton. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S51R (p.Ser51Arg) variant details
- p.Ser51Arg
- rs199836776
- ClinGen CA1944876
- ClinVar RCV000493139
- ClinVar RCV000647811
- Conflicting interpretations
- Inborn genetic diseases; not specified; Neuropathy, hereditary sensory and auton
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- MetaLR 0.66
- MetaSVM -0.51
- CADD 0.15
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; Neuropathy, hereditary s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)